SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.

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Title: SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.
Authors: Edgerley K; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Bryson L; Department of Clinical Genetics, NHS Greater Glasgow and Clyde, Glasgow, UK., Hanington L; Department of Clinical Genetics, Oxford Regional Genetics Service, Oxford, UK., Irving R; Department of All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Cardiff, UK., Joss S; Department of Clinical Genetics, NHS Greater Glasgow and Clyde, Glasgow, UK., Lampe A; Department of Clinical Genetics, South East of Scotland Clinical Genetics Service, Edinburgh, UK., Maystadt I; Department of Clinical Genetics, Institute of Pathology and Genetics, Charleroi, Belgium., Osio D; Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Richardson R; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Split M; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Sansbury FH; Department of All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Cardiff, UK., Scurr I; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Stewart H; Department of Clinical Genetics, Oxford Regional Genetics Service, Oxford, UK., McNeil A; Department of Clinical Genetics, University of Sheffield, Sheffield, UK., Low K; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; Department of Academic Child Health, University of Bristol, Bristol, UK.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 May; Vol. 191 (5), pp. 1447-1458. Date of Electronic Publication: 2023 Mar 02.
Publication Type: Case Reports; Research Support, Non-U.S. Gov't; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1552-4833
DOI:10.1002/ajmg.a.63124